Cortexa research tool·genomics·gnomad

Gnomad Get Sv By Region

Get structural variants (SVs) from gnomAD v4 overlapping a genomic region. Returns DEL/DUP/INV/BND/CPX variants with allele frequencies and consequences. Use for CNV interpretation in specific chromosomal regions. Region should be < 5Mb.

Livelast probed 2026-05-01 01:00Z· 226msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 226ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "chrom": {
      "description": "Chromosome (e.g., '17', 'X').",
      "type": "string"
    },
    "reference_genome": {
      "default": "GRCh38",
      "description": "Reference genome assembly.",
      "enum": [
        "GRCh37",
        "GRCh38"
      ],
      "type": "string"
    },
    "start": {
      "description": "Start position (1-based, GRCh38 by default).",
      "type": "integer"
    },
    "stop": {
      "description": "Stop position.",
      "type": "integer"
    }
  },
  "required": [
    "chrom",
    "start",
    "stop"
  ],
  "type": "object"
}

Examples (1)

Default Gnomad Get Sv By Region call

public-safeinput

{
  "chrom": "",
  "start": 1,
  "stop": 1
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_gnomad_get_sv_by_region
Tool name: gnomad_get_sv_by_region
Added: 2026-05-01 00:58Z
Tags: tooluniverse

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